ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495832
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
389275
ClinVar RCV Id:
RCV000439863
RCV000865671
RCV001172506
RCV001698278
RCV002365550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ser2102Trp
CA1714043
NM_015120.4:c.6305C>G