ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495727
Gene: ALMS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000498266
RCV000798904
RCV000825867
RCV002438208
ClinVar Variation:
432709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Tyr966His
CA1713431
NM_015120.4:c.2896T>C