ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495661
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377135
ClinVar RCV Id:
RCV000427541
RCV001078806
RCV004022274
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ser275Asn
CA1712994
NM_015120.4:c.824G>A