ClinGen Allele Registry
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Canonical Allele Identifier:
PA915993789
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048732
RCV000083214
RCV000129500
RCV000420335
RCV001080706
ClinVar Variation:
55350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Val561Met
CA003143
NM_007299.4:c.1681G>A