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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:
CA2685283395
Gene: MGAM
HGNC
NCBI
OR9A4
HGNC
NCBI
Linked Data
gnomAD v4:
7-141972600-GGAATCAGAGTTGTATTCCTGAA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.141972610_141972631del , CM000669.2:g.141972610_141972631del
GRCh38
NC_000007.13:g.141672410_141672431del , CM000669.1:g.141672410_141672431del
GRCh37
NC_000007.12:g.141318879_141318900del
NCBI36
NG_016141.1:g.6152_6173del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465654.5:c.-3+26613_-3+26634del
(MGAM)
ENSP00000419372.1:n.-3+26613_-3+26634del
XM_011515783.1:c.*25-13786_*25-13765del
(OR9A4)
XP_011514085.1:n.*25-13786_*25-13765del
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