ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829694230
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000215986
RCV000240798
RCV000663205
RCV001319504
RCV003153490
RCV003493510
ClinVar Variation:
224433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1340Pro
CA10575944
NM_007297.4:c.4018T>C