ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997845
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111835
RCV000131669
RCV001314139
RCV003607221
ClinVar Variation:
54550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val788Ile
CA001579
NM_007300.4:c.2362G>A