ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123172
Gene: SELP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014483
RCV003979161
ClinVar Variation:
13528
3056507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002996.2:p.Val640Leu
CA123171
NM_003005.4:c.1918G>C
CA1234973
NM_003005.4:c.1918G>T