ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678979
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
839571
ClinVar RCV Id:
RCV001041355
RCV003117715
RCV003158314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser2148Ala
CA387789315
NM_000059.4:c.6442T>G