ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495941
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393018
ClinVar RCV Id:
RCV000514773
RCV000468894
RCV002446761
RCV003114574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg2805His
CA1714465
NM_015120.4:c.8414G>A