ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684254
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001284456
RCV004035523
ClinVar Variation:
993181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Trp3191Ser
CA387763360
NM_000059.4:c.9572G>C