ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573262521
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1404322
ClinVar RCV Id:
RCV001927697
RCV002344004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg4015Trp
CA1715409
NM_015120.4:c.12043C>T