ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828762722
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_001365383.1:p.Asp422Asn
CA10613939
NM_001378454.1:c.1264G>A