Canonical Allele Identifier: PA2829688919
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54227
ClinVar RCV Id: RCV000047448 RCV000111599 RCV000148411 RCV000215677 RCV000679681 RCV000764125
ClinVar Variation Id: 54228
ClinVar RCV Id: RCV000111600 RCV000166450 RCV000236219 RCV001344736 RCV001174669
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009228.2:p.Phe414Leu
CA000918
NM_007297.4:c.1240T>C
CA000921
NM_007297.4:c.1242T>A
CA10599277
NM_007297.4:c.1242T>G