ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495675
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337008
ClinVar RCV Id:
RCV000266927
RCV003912419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Asp423Asn
CA10613939
NM_015120.4:c.1267G>A