ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA207923
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210126
ClinVar RCV Id:
RCV000194030
RCV000463604
RCV000726112
RCV001172511
RCV002415817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Tyr680Cys
CA207921
NM_015120.4:c.2039A>G