ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195574
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55233
ClinVar RCV Id:
RCV000077577
RCV000166323
RCV000586073
RCV001432824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile1529Val
CA002916
NM_007294.4:c.4585A>G