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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2232982629
Gene: FA2H
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.74774661C= , CM000678.2:g.74774661C=
GRCh38
NC_000016.9:g.74808559C= , CM000678.1:g.74808559C=
GRCh37
NC_000016.8:g.73366060C=
NCBI36
NG_017070.1:g.5171G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000219368.8:c.95G=
MANE Select
ENSP00000219368.3:p.Arg32=
ENST00000219368.7:c.95G=
ENSP00000219368.3:p.Arg32=
ENST00000567683.5:c.95G=
ENSP00000455126.1:p.Arg32=
NM_024306.4:c.95G=
NP_077282.3:p.Arg32=
XM_011523317.1:c.95G=
XP_011521619.1:p.Arg32=
XM_011523318.1:c.95G=
XP_011521620.1:p.Arg32=
XM_011523317.3:c.95G=
XP_011521619.1:p.Arg32=
NM_024306.5:c.95G=
MANE Select
NP_077282.3:p.Arg32=
Search 100 bp 5'
Search 100 bp 3'