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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:
CA1181573503
Gene: ABCD3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94418430C= , CM000663.2:g.94418430C=
GRCh38
NC_000001.10:g.94883986C= , CM000663.1:g.94883986C=
GRCh37
NC_000001.9:g.94656574C=
NCBI36
NG_008865.1:g.5054C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000370214.9:c.-49C=
MANE Select
ENSP00000359233.4:n.-49C=
NM_001122674.1:c.-49C=
NP_001116146.1:n.-49C=
NM_002858.3:c.-49C=
NP_002849.1:n.-49C=
XM_006710802.2:c.-49C=
XP_006710865.2:n.-49C=
NM_002858.4:c.-49C=
MANE Select
NP_002849.1:n.-49C=
NM_001122674.2:c.-49C=
NP_001116146.1:n.-49C=
Search 100 bp 5'
Search 100 bp 3'